Genetic Analysis of left-right axis malformations

对左-右(L-R)轴畸形的复杂遗传学进行了研究，重点研究了与L-R轴畸形常见表型相关的基因，包括部位倒置、异位和器官异构性。L-R轴缺陷既可由环境原因引起，也可由遗传原因引起(Roessler and Muenke，2001)，这些研究的目的是通过对这些疾病患者的研究，确定导致正常和异常L-R轴形成的基因。几个这样的基因的突变已经被证明是导致几个家族性和散发的异质性趋向性病例的原因：ZIC3(Gebbia等人。1997)，左撇子A(Kosaki R，等人，1999)，ACVR2B(Kosaki K，等人1999年)和CFC1(Bamford等人，2000年)。我们预计，在寻找偏侧障碍的遗传原因时，将发现许多对L-R发育重要的其他基因。

A study of the complex genetics of left-right (L-R) axis malformations has been undertaken with an emphasis on those genes that are associated with common phenotypes of L-R disorders, including situs inversus, heterotaxia and organ isomerism. L-R defects can result from either environmental or genetic causes (Roessler and Muenke, 2001) and it is the aim of these investigations to determine the genes responsible for both normal and abnormal L-R axis formation through the study of patients with these disorders. Mutations in several such genes have been shown to be responsible for several familial and sporadic cases of heterotaxia: ZIC3 (Gebbia et al. 1997), LEFTY A (Kosaki R, et al., 1999), ACVR2B (Kosaki K, et al. 1999), and CFC1 (Bamford et al., 2000). We anticipate that many additional genes important for L-R development will be identified in the search for genetic causes of laterality disorders.